Article
[A Case of Colon Cancer with Familial Adenomatous Polyposis Showing MSI-H and Deletion of MSH2/MSH6 Protein].
Gan to kagaku ryoho. Cancer & chemotherapy - 1 Nov 2015
Suzuki Okihide, Chika Noriyasu, Fukuchi Minoru, Kumamoto Kensuke, Kumagai Youichi, Ishibashi Keiichiro, Eguchi Hidetaka, Mochiki Erito, Akagi Kiwamu, Ishida Hideyuki
Abstract excerpt
A 31-year-old woman with familial adenomatous polyposis (FAP) was diagnosed with colon cancer. Genetic testing showed a germ cell line mutation of APC (a frame-shift mutation). Moreover, deletion of MSH2/MSH6 protein and high microsatellite instability (MSI-H) was detected. Therefore, Lynch syndrome (LS) associated with FAP was suspected. Additional analysis showed no pathogenic mutation of MSH2 and no change in...
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